Spinocerebellar ataxia type 28 is an autosomal dominant form of cerebellar ataxia (ADCA) caused by mutations in AFG3L2, a gene that encodes a subunit of the mitochondrial m-AAA protease. We screened 366 primarily Caucasian ADCA families, negative for the most common triplet expansions, for point mutations in AFG3L2 using DHPLC. Whole-gene deletions were excluded in 300 of the patients, and duplications were excluded in 129 patients. We found six missense mutations in nine unrelated index cases (9/366, 2.6%): c.1961C>T (p.Thr654Ile) in exon 15, c.1996A>G (p.Met666Val), c.1997T>G (p.Met666Arg), c.1997T>C (p.Met666Thr), c.2011G>A (p.Gly671Arg), and c.2012G>A (p.Gly671Glu) in exon 16. All mutated amino acids were located in the C-terminal proteolytic domain. In available cases, we demonstrated the mutations segregated with the disease. Mutated amino acids are highly conserved, and bioinformatic analysis indicates the substitutions are likely deleterious. This investigation demonstrates that SCA28 accounts for ∼3% of ADCA Caucasian cases negative for triplet expansions and, in extenso, to ∼1.5% of all ADCA. We further confirm both the involvement of AFG3L2 gene in SCA28 and the presence of a mutational hotspot in exons 15-16. Screening for SCA28, is warranted in patients who test negative for more common SCAs and present with a slowly progressive cerebellar ataxia accompanied by oculomotor signs.

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The aim of this study is to evaluate the role of spectral electroencephalogram (EEG) analysis (,EEG) in quantitating brain dysfunction in cirrhotic patients, showing conditions of minimal hepatic encephalopathy (HE), and determining the impact of orthotopic liver transplantation (OLT) on its correction. ,EEG was compared with visual EEG (,EEG) in 44 cirrhotic patients waiting for OLT and 44 healthy controls. Eighteen patients had overt HE, and 26 patients had no apparent HE. Twenty-one transplant recipients were reexamined 6 months after OLT. Computerized ,EEG was performed by mean dominant frequency (MDF) and the occipital alpha-theta ratio, expressed as its logarithmic transformation (LogR). All

Gambling disorder (GD) is a form of behavioral addiction. In recent years, it has been suggested that the application of transcranial Direct Current Stimulation (tDCS) to the dorsolateral prefrontal cortex (DLPFC), which plays a key role in top-down inhibitory control and impulsivity, may represent a new therapeutic approach for treating addictions. Here we investigated the effectiveness of a novel low dose tDCS protocol (i.e. six sessions of right anodal/left cathodal tDCS for 20 min, with a current intensity of 1 mA) applied to DLPFC in a patient with GD. To evaluate the effect of the proposed intervention, cognitive, psychological and behavioural evaluations were performed at different time points, pre and post intervention. The results showed improvement of impulsivity, decision making, and cognitive functioning after tDCS intervention. Findings of the present study suggest that low doses of right anodal/left cathodal tDCS to DLPFC may effectively improve gambling behaviour. They also suggest to carefully evaluate the effects of this tDCS polarity on the patient’s emotional state. The current protocol warrants further investigation in large groups of patients, as it may provide relevant insights into the design of effective, low dose treatments of gambling disorder.